Moving the Dial for Pediatric Mitochondrial Disease Patients
Dr. Leon Dure Leads Pediatric Mitochondrial Care at the University of Alabama at Birmingham
The Foundation for Mitochondrial Medicine (FMM) is pleased to announce that through its partnership with the University of Alabama at Birmingham (UAB), Dr. Leon Dure is leading a new pediatric mitochondrial disease clinical care program at UAB. In addition to addressing the clinical needs of patients in the Southeast, there will be future opportunities for patients to participate in exciting new bioenergetics research which involves the measure of mitochondrial function via a non-invasive blood test. This test could potentially serve as an objective measure of fatigue, measure the efficacy of an intervention and possibly replace muscle biopsies often used to diagnose mitochondrial diseases. To learn more click Science on the Horizon.
The clinical and research components address unmet clinical, diagnostic and therapeutic needs of the pediatric mitochondrial patient community. Dr. Dure, Professor and Director of the Division of Pediatric Neurology, holds the William Bew White, Jr. Chair in Pediatric Neurology. Dr. Dure received his medical degree from Baylor College of Medicine with additional training at Babies Hospital/Columbia Presbyterian Medical Center and College of Physicians and Surgeons and the University of Michigan. Dr. Dure’s clinical research interests are movement disorders in childhood as well as Huntington’s Disease.
“We are delighted to refer FMM families and friends to Dr. Dure,” said Laura Stanley, executive director of FMM. “He is one of the Southeast’s leading pediatric neurologists, and Dr. Dure is eager to begin seeing patients and hopes to help many families with children that have mitochondrial disease.”
To Schedule a clinical appointment with Dr. Dure
Please send an email with the subject line: Referral from FMM Re: Appointment with Dr. Dure for Mitochondrial Disease Patient to the following email address: Neuro@peds.uab.edu. (Note: Contact information regarding participation in bioenergetic research study will be released at later date).
The Foundation for Mitochondrial Medicine, University of Alabama at Birmingham and Seahorse Bioscience Announce Comprehensive Mitochondrial Patient Care Clinical Program
New multidisciplinary clinical center for care, diagnosis and state-of-the-art research
We are thrilled to announce the creation of The Foundation for Mitochondrial Medicine Program at UAB – a comprehensive clinical program for the diagnosis of neuromuscular mitochondrial diseases using precision medicine models for monitoring therapeutic interventions with partners FMM, the University of Alabama at Birmingham (UAB) and Seahorse Bioscience.
The shared academic, philanthropic and medical mission of the clinic is to revolutionize the treatment and diagnosis of mitochondrial diseases by establishing and integrating state-of-the-art techniques in bioenergetics and therapeutics using a precision medicine approach. The clinic will achieve this vision by developing two parallel components: 1) a monthly multidisciplinary clinic to evaluate and care for adults and pediatric patients with mitochondrial disease and 2) a reference laboratory for metabolic bioenergetics focused on establishing mitochondrial-targeted clinical, noninvasive laboratory measurements and instruments. The clinic will begin seeing patients in 2016.
Laura Stanley, executive director of FMM says that by establishing the clinic, FMM, UAB and Seahorse plan to address the unmet clinical, diagnostic and therapeutic needs of the mitochondrial patient community. Clinical needs of the patient community will be coordinated under one roof, and top UAB specialists will join together to serve complex patient populations whose symptoms require the collective knowledge of neurologists, geneticists, gastroenterologists and others. UAB and Seahorse Bioscience have made revolutionary advancements in the field of bioenergetics, and UAB’s established research expertise and longstanding work in neuromuscular diseases make it the ideal location for the program.
Despite significant advances in recognizing, diagnosing and treating patients over the last 40 years, effective treatments that are targeted to the specific deficit in a patient are still lacking. The precision instrumentation developed by Seahorse Bioscience and the bioenergetics testing from UAB will allow advances in metabolic and genetic analysis to be applied to the diagnosis and treatment of patients with mitochondrial disorders. Mitochondrial dysfunction is an underlying cause of many neurodegenerative diseases, cancer and cardiometabolic syndromes. From Parkinson’s to Alzheimer’s, diabetes and beyond, an understanding of mitochondrial stresses can lead to better treatments and quality of life for many.
UAB has a tradition of excellence in research and participation in clinical trials. Scientific expertise in mitochondrial medicine is longstanding at UAB and is available through a network of departments and the centers, especially the Center for Free Radical Biology. The UAB Mitochondrial Medicine Laboratory was established in 2011 in the Department of Pathology in the School of Medicine, and has been pioneering translational tests to assess mitochondrial function through noninvasive tests in human subjects.
“For the first time, we will apply new means of measuring bioenergetic health to the management and care of patients with mitochondrial diseases,” adds Victor Darley-Usmar, Ph.D., endowed professor of mitochondrial medicine and pathology, vice-chair for research in the UAB Department of Pathology, and scientific director of the program. “The most serious diseases that affect developed nations, such as atherosclerosis, neurodegeneration and diabetes, are known to involve changes in bioenergetic health. The challenge is to translate the findings in basic research in mitochondrial function and the pathology of disease to the clinic, and this program will be a major step toward achieving that aim.”
Seahorse Bioscience developed the enabling technology upon which bioenergetics measurements, for the first time, can provide the necessary precision and reliability required to establish Clinical Laboratory Improvement Amendments (CLIA) tests for mitochondrial pathologies. Seahorse is the industry leader in metabolic analyzers and assay kits for measuring cell metabolism in live cells, in real time. XF Technology and stress test kits render the understanding and diagnosis of mitochondrial disease into a simple, efficient and user-friendly process, enabling researchers to understand better how bioenergetics regulates cellular function. Utilizing XF Technology and a bioenergetics stress test, researchers will measure and analyze respiratory complex activities and mitochondrial DNA damage in white blood cells and platelets from blood samples. This information will then form the basis of a Bioenergetic Health Index (BHI). The test is much easier to administer than a diagnostic muscle biopsy and can effectively monitor the progression and response of patients to treatment. An important objective for the first three years of the UAB Program and Clinic will be to validate and provide CLIA certification for these tests using the XF platform.
“One of the keys to the resurgence in mitochondrial research and treatment has been our ability to redefine metabolism in the context of the complete cellular architecture of a living cell,” stated David Ferrick, chief scientific officer of Seahorse Bioscience. “Making this complexity addressable allows researchers and physicians to ask and answer questions that were out of reach, and thus limited them to theory and speculation. The combination of compelling patient advocacy by the FMM, basic and clinical expertise of UAB, and enabling technology from Seahorse will be the perfect storm for mitochondrial diseases.”
Known for its innovative and interdisciplinary approach to education at both the graduate and undergraduate levels, the University of Alabama at Birmingham is an internationally renowned research university and academic medical center, as well as Alabama’s largest employer, with some 23,000 employees, and has an annual economic impact exceeding $5 billion on the state. The five pillars of UAB’s mission include education, research, patient care, community service and economic development. UAB is a two-time recipient of the prestigious Center for Translational Science Award. Learn more at www.uab.edu.UAB: Knowledge that will change your world.
About Seahorse Bioscience
Seahorse Bioscience metabolic analyzers and stress test kits are the industry standard in cell metabolism measurements. Scientists worldwide are using Seahorse technology to advance their research in understanding neurodegeneration, aging, cancer, cardiovascular, cell physiology, toxicology, hepatobiology, immunology, infectious diseases, mitochondrial diseases, model organism, obesity, diabetes, metabolic disorders, screening, and translational medicine. Founded in 2001, Seahorse Bioscience is headquartered in Billerica, Massachusetts, U.S., and has regional offices in Copenhagen, Denmark, and Shanghai, China. Learn more about Seahorse Bioscience at www.seahorsebio.com.